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Updated: Dec 11, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Prenatally Diagnosed Fetal Aneuploidy: Natural History and Subsequent Management
N C Murphy1,2, H Dunne2, K Flood1,2
1Obstetrics & Gynaecology, Royal College of Surgeons in Ireland, Dublin, Ireland.
Abstract:
Aims Our aim was to determine the number of cases of aneuploidy which were prenatally diagnosed in our tertiary referral unit from 2005-2015 and to analyse the subsequent outcomes of Trisomies 13, 18 and 21(T13, T18 and T21). Methods This was a retrospective observational study. We firstly determined the total number of prenatally diagnosed aneuploidies. We then analysed their subsequent outcomes including average gestation at miscarriage or IUD, mode of delivery and neonatal outcome. Results 402 cases of T13, T18 or T21 were identified of which 40% opted for expectant management. T18 was the most likely diagnosis to result in miscarriage, IUD or intrapartum death. The highest caesarean delivery rate was in T21. Conclusion With regards to T13 and T18, live birth rates show that some parents may achieve the goal of spending time with their baby in the immediate postpartum period. This information will act as a valuable resource in our counselling.
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